RESUMEN
BACKGROUND: Fulminant idiopathic intracranial hypertension (FIIH) is characterized by rapid, severe, progressive vision loss and often treated surgically. Cerebral transverse venous stenting (CTVS) is efficacious in IIH patients, but emergent CTVS in FIIH is rarely reported. We present our experience with emergent CTVS in patients with FIIH. METHODS: Since 01/2019, an institutional protocol allowed emergent CTVS in FIIH patients with bilateral transverse sinus stenosis and gradient pressure > 15 on digital subtraction angiography (DSA). We retrospectively analyzed a prospective registry of all IIH patients with details of neurological and neuro-ophthalmological assessments before and after treatment, and subjective assessments of headache and tinnitus were made pre-and post-procedure. RESULTS: 259 IIH patients, including 49 who underwent CTVS, were registered. Among them, five female patients met inclusion criteria for FIIH and underwent emergent CTVS. FIIH patients were younger (18.8 ± 1.64 vs 27.7 ± 4.85, p < 0.01), mean BMI was lower (30.8 ± 10.57 vs 34.6 ± 4.3, p < 0.01), and lumbar puncture opening pressure higher (454 ± vs 361 ± 99.4, p < 0.01) than that of IIH patients. They presented with acute visual loss, severe headache, papilledema, significant bilateral transverse sinus stenosis on CT-venography, and mean dominant side gradient pressure of 26.4 ± 6.2 on DSA. CTVS was performed without significant complications, resulting in remarkable improvement in headache, optical coherence tomography, and visual fields within 1 week. At 1-year follow-up (four patients) and 6-month follow-up (1 patient), there was complete resolution of papilledema and headache, and marked improvement in visual acuity. CONCLUSIONS: In these patients, emergent-CTVS was a safe and effective treatment option for FIIH. Further evaluation is warranted.
Asunto(s)
Hipertensión Intracraneal , Papiledema , Seudotumor Cerebral , Humanos , Femenino , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/diagnóstico por imagen , Seudotumor Cerebral/cirugía , Papiledema/diagnóstico por imagen , Papiledema/etiología , Papiledema/cirugía , Estudios Retrospectivos , Constricción Patológica/complicaciones , Cefalea/etiología , Stents/efectos adversos , Trastornos de la Visión/complicaciones , Senos Craneales , Hipertensión Intracraneal/diagnóstico por imagen , Hipertensión Intracraneal/etiología , Hipertensión Intracraneal/cirugíaRESUMEN
INTRODUCTION: Idiopathic intracranial hypertension (IIH) is a syndrome mostly affecting young, overweight women, which characteristically causes headaches, transient visual obscuration or double vision, tinnitus, nausea and vomiting. Severe disease may cause irreversible visual loss. IIH may be primary, or it may be secondary to various medications and diseases. We hereby present a case study of a patient with ulcerative colitis and uveitis, who presented with blurred vision, headache and tinnitus and was diagnosed as IIH. We discuss the differential diagnosis with relation to her underlying disease and treatments.
Asunto(s)
Colitis Ulcerosa , Seudotumor Cerebral , Acúfeno , Uveítis , Humanos , Femenino , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/diagnóstico , Acúfeno/complicaciones , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/diagnóstico , Cefalea/etiología , Trastornos de la Visión/etiología , Uveítis/diagnóstico , Uveítis/etiologíaRESUMEN
BACKGROUND: A multitude of terms have been used to describe automated visual field abnormalities. To date, there is no universally accepted system of definitions or guidelines. Variability among clinicians creates the risk of miscommunication and the compromise of patient care. The purposes of this study were to 1) assess the degree of consistency among a group of neuro-ophthalmologists in the description of visual field abnormalities and 2) to create a consensus statement with standardized terminology and definitions. METHODS: In phase one of the study, all neuro-ophthalmologists in Israel were asked to complete a survey in which they described the abnormalities in 10 selected automated visual field tests. In phase 2 of the study, the authors created a national consensus statement on the terminology and definitions for visual field abnormalities using a modified Delphi method. In phase 3, the neuro-ophthalmologists were asked to repeat the initial survey of the 10 visual fields using the consensus statement to formulate their answers. RESULTS: Twenty-six neuro-ophthalmologists participated in the initial survey. On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6% (SD 0.19), and an undecided response in 6.15% (SD 4.13). Twenty-two neuro-ophthalmologists participated in the creation of a consensus statement which included 24 types of abnormalities with specific definitions. Twenty-three neuro-ophthalmologists repeated the survey using the consensus statement. On average, in the repeated survey, there were 5.9 unique descriptions for each of the visual fields (SD 1.79), a description of only the location in 0.004% (SD 0.01), and an undecided response in 3.07% (SD 2.11%). Relative to the first survey, there was a significant improvement in the use of specific and decisive terminology. CONCLUSIONS: The study confirmed a great degree of variability in the use of terminology to describe automated visual field abnormalities. The creation of a consensus statement was associated with improved use of specific terminology. Future efforts may be warranted to further standardize terminology and definitions.
Asunto(s)
Oftalmólogos , Campos Visuales , Humanos , Consenso , Pruebas del Campo Visual , Encuestas y CuestionariosRESUMEN
Purpose: To describe the evolution of COVID-19 related publications in the field of ophthalmology. Methods: All articles published in the field of ophthalmology and relevant to COVID-19 were identified by conducting a search on PubMed and Scopus databases using the string ((ophthalmology) OR (eye) OR (ocular)) AND ((corona) OR (COVID-19) OR (pandemic)). Search was conducted on September 30, 2020. Each eligible publication was independently graded by two experienced ophthalmologists based on the level of evidence-based medicine (EBM), with scores ranging from 1 (the highest level of EBM) to 5 (the lowest level). The average level of EBM was also evaluated for each month from February through September. Finally, we analyzed the interval (in days) between submission and acceptance for publication as well as the percentage of manuscripts that required revision before being accepted. Results: Our search yielded a total of 425 relevant publications. Of these publications, 359 (84.5%), 59 (13.9%), and 7 (1.6%) were rated as level 5, 4, and 3, respectively; none of the publications was rated as level 1 or 2. From February 2020 through September 2020, we found a significant increase in the relative proportion of level 3 and 4 publications compared to level 5 publications (rho = 0.108, p=0.024). Moreover, the number of citations per article was significantly correlated with the level of EBM (rho = 2.44, p < 0.0005); however, we found no correlation between the number of citations and either the month of publication or the ranking of the journal in which the article was published. The mean interval between submission and acceptance for publication was 20.4 days (SD: 20.2 days), and 48.2% of submitted manuscripts were accepted without revision. From February through September, the interval between submission and acceptance increased significantly (rho = 0.515, p < 0.0005); however, we found no significant change in the percentage of publications that were accepted without revision over this same time period. Conclusions: In the early months of the COVID-19 pandemic, primarily lower-level EBM articles were published, and these publications were accepted relatively quickly. However, this effect was temporary, and over time the EBM levels improved and the interval between submission and acceptance increased, indicating an increase in publication standards.
RESUMEN
BACKGROUND: To describe the use of intracameral recombinant tissue plasminogen activator (r-tPA) in the treatment of severe fibrinous reactions in toxic anterior segment syndrome (TASS) after cataract surgery. METHODS: A case series of 59 eyes of 59 patients with severe fibrinous anterior chamber reaction following cataract surgery who received intracameral r-tPA (25 µg/0.1 ml). The main outcome measures after intracameral r-tPA were the incidence of complete fibrinolysis, time of maximal effect, visual acuity, and complications. RESULTS: Severe fibrinous reactions appeared 11.5 ± 5.3 days after cataract surgery. Fibrinolysis was observed 2.33 ± 2.70 days after rtPA use and 36 eyes (61%) exhibited resolution of the fibrin by the end of the first day following injection (p < 0.001). Transient corneal edema observed at 1-day after injection was the only complication reported during the injection of r-tPA or at follow-up. Eight eyes (13.6%) required a second r-tPA injection. Best-corrected visual acuity improved from 0.88 ± 0.67 logMAR units before rtPA injection to 0.48 ± 0.49 logMAR units at 1-month (p < 0.001). CONCLUSIONS: The application of r-tPA was a quick and efficacious therapeutic approach for the management of severe fibrinous reactions in TASS after cataract surgery. In a clinical setting, intracameral r-tPA may be useful when rapid visual recovery is needed.
Asunto(s)
Extracción de Catarata , Catarata , Oftalmopatías/tratamiento farmacológico , Activador de Tejido Plasminógeno/uso terapéutico , Cámara Anterior , Extracción de Catarata/efectos adversos , Oftalmopatías/etiología , Fibrinolíticos/uso terapéutico , Humanos , Complicaciones Posoperatorias/tratamiento farmacológico , Proteínas Recombinantes/uso terapéuticoRESUMEN
BACKGROUND: Skew deviation, a vertical misalignment of the eyes caused by a lesion in the vestibulo-ocular pathway, is a common manifestation of brainstem dysfunction, yet comprehensive information about its clinical profile is lacking. The aim of this study was to document presenting symptoms, causes, ocular alignment features, accompanying neurologic signs, pertinent brain imaging abnormalities, and measures used to relieve diplopia. METHODS: We searched the electronic medical records text from 2000 to 2018 for "skew" or "skew deviation" at a tertiary care academic center, including only patients diagnosed under supervision of faculty neuro-ophthalmologists. After excluding patients with features suggesting an imitator of skew deviation, we collected data useful in answering the selected clinical issues. RESULTS: In a cohort of 157 patients, vertical misalignment ranged between 1 and 30 prism diopters (PD) (median 5 PD) and was comitant in 100 (64%) patients. Diplopia was reported by 87% and blurred vision by 11% of patients. Blurred vision was more common when vertical misalignment was less than 3 PD. At least one accompanying neurologic sign was present in 133 (85%) patients, most often nystagmus, followed by gaze paresis, ataxia, saccadic pursuit, and internuclear ophthalmoplegia. Stroke affecting the thalamus, brainstem, or cerebellum accounted for 82 (52%) of cases. Stroke was usually ischemic, mostly unprovoked, but also occurring after intracranial or extracranial surgical procedures. Brainstem tumor and operative injury caused most of the remaining cases. A subgroup of 17 (11%) patients had skew deviation as the only new clinical sign and had no pertinent brain imaging abnormalities. Resolution of skew deviation, documented in 58 (42%) of 137 patients who had at least one follow-up visit, usually occurred within 3 months, but sometimes not until after 12 months. Of 110 patients who still had diplopia on follow-up examinations, the diplopia was successfully relieved with prism spectacles in 68 (62%). The cause of the skew deviation, amount of vertical misalignment, and degree of incomitance did not predict the success in relieving diplopia. Accompanying neurologic signs, including ataxia, endured in 44% of patients and were often more debilitating than the diplopia of skew deviation. CONCLUSIONS: The amplitude of misalignment in skew deviation varies widely but is generally 5 PD or less. When misalignment is 3 PD or less, patients report blurred vision rather than diplopia. Skew deviation is usually accompanied by other neurologic signs reflecting brainstem dysfunction. Yet there is a small subgroup in which vertical misalignment is an isolated sign, and there are no supporting brain imaging abnormalities. The main cause of skew deviation is ischemic stroke, which affects not only the brainstem but also the thalamus. Diplopia from skew deviation frequently persists, in which case prism spectacles may be successful in palliating it. Accompanying neurologic signs, especially ataxia, may outlast skew deviation and be more debilitating.
Asunto(s)
Diplopía/diagnóstico , Nistagmo Patológico/diagnóstico , Trastornos de la Motilidad Ocular/diagnóstico por imagen , Estrabismo/diagnóstico , Trastornos de la Visión/diagnóstico , Neoplasias Encefálicas/patología , Diplopía/fisiopatología , Diplopía/terapia , Anteojos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nistagmo Patológico/fisiopatología , Trastornos de la Motilidad Ocular/fisiopatología , Estudios Retrospectivos , Movimientos Sacádicos , Estrabismo/fisiopatología , Accidente Cerebrovascular/diagnóstico , Trastornos de la Visión/fisiopatologíaRESUMEN
BACKGROUND: COVID-19 has erupted into our lives and forced rapid changes in all fields of medicine, causing a rush for publications that inevitably caused a shift away from the paradigm of evidence-based medicine (EBM). The objective of the present report is to assess and quantify this process. METHODS: We compared the levels of EBM of the publications in the ophthalmic literature on COVID-19 at the beginning of the pandemic and compared it to those of articles published the prior year during April 2019 for the three highest ranking journals in the field of comprehensive ophthalmology. RESULTS: COVID-19 publications ranked significantly lower (p<0.001). Time between submission and acceptance was significantly shorter for the COVID-19 publications (p<0.001), and significantly more publications were accepted without revisions (P<0.001). CONCLUSION: Though a shift away from EBM may be unavoidable in the early stages of a pandemic, we suggest that for the benefit of reliable information and informed decision-making, it is time to go back to EBM.
RESUMEN
BACKGROUND: Allergic fungal rhinosinusitis (AFRS) is a common condition in which sinusitis develops as an IgE-mediated response to common sinonasal fungal organisms. If that response leads to blockage of sinus ostia, bone expansion and erosion by expansive cysts containing dense inspissated debris may occur with the potential for critical neurovascular compression including damage to the anterior visual pathway. METHODS: Review of clinical and imaging features of 2 patients who sustained catastrophic clinical outcomes. RESULTS: The first patient had pansinusitis with massive mucocele-like cysts expanding the sphenoid sinus and cranial base and causing compression of the anterior visual pathway that led to persistent severe vision loss despite extensive sinus surgery. The second patient developed sphenoethmoidal expansion with a marked inflammatory response and presumed conversion to invasive fungal sinusitis that caused anterior visual pathway vision loss, bilateral ocular motor palsies from extension into the cavernous sinuses, and death from a large middle cerebral artery stroke. CONCLUSIONS: Although AFRS is most often benign and treatable, it may rarely produce catastrophic outcomes, especially if the sphenoid sinus is involved. Irreversible vision loss may occur from compression, and ocular motor palsies and death from conversion to invasive fungal disease. Close ophthalmologic and imaging monitoring is necessary in patients with expanded sinuses, and prophylactic sinus surgery may be indicated in certain cases.
Asunto(s)
Seno Cavernoso/diagnóstico por imagen , Infecciones Fúngicas del Ojo/diagnóstico , Sinusitis/diagnóstico , Adulto , Biopsia , Infecciones Fúngicas del Ojo/microbiología , Femenino , Hongos/aislamiento & purificación , Humanos , Masculino , Sinusitis/microbiología , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
BACKGROUND: Unruptured intracranial aneurysms that cause isolated sixth nerve palsies are usually located extradurally in the cavernous sinus or intradurally as part of fusiform enlargement of the parent artery. Intradural saccular aneurysms of the vertebrobasilar circulation are a rare but life-threatening cause of isolated sixth nerve palsy. We provide documentation of 2 such cases. METHODS: Case records of the Neuro-ophthalmology Clinics at the University of Michigan. RESULTS: A 56-year-old woman with an arteriosclerotic risk profile reported new diplopia and had an isolated left sixth nerve palsy caused by an unruptured saccular aneurysm of the anterior inferior cerebellar artery. It was successfully coiled, and the sixth nerve palsy markedly improved. A 62-year-old woman with an arteriosclerotic risk profile and new diplopia had an isolated right sixth nerve palsy caused by a large unruptured vertebral artery aneurysm. It was coiled and later stented and recoiled. These procedures isolated the aneurysm and relieved the sixth nerve palsy. CONCLUSIONS: Isolated sixth nerve palsies in these 2 older adult patients with arteriosclerotic risk profiles were caused by unruptured intradural vertebrobasilar aneurysms. This report adds documentation to a rare phenomenon that must be taken into consideration in deciding whether brain imaging is needed in isolated sixth nerve palsy.
Asunto(s)
Enfermedades del Nervio Abducens/etiología , Aneurisma/complicaciones , Enfermedades del Nervio Abducens/diagnóstico , Enfermedad Aguda , Aneurisma/diagnóstico por imagen , Aneurisma Roto/complicaciones , Aneurisma Roto/terapia , Angiografía de Substracción Digital , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana EdadRESUMEN
PURPOSE: To determine the effect of the hormones estrogen and progesterone on the biomechanical properties of porcine corneas. METHODS: Thirty fresh porcine corneas were acquired from an abattoir. The corneas were equally divided into three groups. Groups were incubated for 1 week in Eusol-C solution containing supra-physiologic concentrations of estrogen, progesterone, or control (no added hormone). After incubation, the central corneal thickness (CCT) of each cornea was measured using an electronic caliper, and then the corneas were cut into strips. The strips were then clamped in the pneumatic jaws of a computer-controlled biomaterial tester (Instron 4502, USA) and stretched at a constant rate of 1 mm/min until tissue rupture while constantly recording the stress and strain of the tissue. Stress-strain curves were plotted and Young's modulus was calculated for each corneal strip. RESULTS: Average corneal thickness was 873.5 ± 143.1 µm for the control group, 928.0 ± 97.7 µm for the estrogen group, and 922.0 ± 116.7 µm for the progesterone group (data presented as mean ± SD). There was no statistically significant difference between the groups regarding the CCT (p = 0.89). The average Young's modulus was 17.00 ± 3.46 MPa for the control group, 16.95 ± 6.83 MPa for the progesterone group, and 12.33 ± 3.24 MPa for the estrogen group. The difference between the control and estrogen groups was statistically significant (p = 0.018) while the difference between the control and progesterone groups was not (p = 0.72). CONCLUSION: Estrogen has a relaxing effect on the porcine cornea, resulting in reduced stiffness of the tissue. Progesterone has no significant effect on the biomechanical properties of porcine corneas. Estrogen and progesterone do not significantly affect CCT.
Asunto(s)
Córnea/fisiopatología , Enfermedades de la Córnea/fisiopatología , Estrógenos/farmacología , Progesterona/farmacología , Animales , Fenómenos Biomecánicos , Córnea/efectos de los fármacos , Enfermedades de la Córnea/tratamiento farmacológico , Modelos Animales de Enfermedad , Progestinas/farmacología , PorcinosRESUMEN
PURPOSE: To determine whether children born to mothers with gestational diabetes mellitus (GDM) are at increased risk to develop of pediatric ophthalmic morbidity. MATERIALS AND METHODS: In this population based cohort study, all deliveries between 1991 and 2014 were included. Congenital malformations, multiple gestations, and patients lacking prenatal care were excluded from analysis. Mothers were defined as either having no GDM, having diet-treated GDM, or medically treated GDM. Outcomes were defined as different ophthalmic morbidities of the offspring until the age of 18. Kaplan-Meier curves were used to compare the cumulative morbidity in each group, and a Cox proportional hazard model was used to control for possible confounders. RESULTS: During the study period, 238,622 deliveries met the inclusion criteria, of those 4.0% (n = 9601) of mothers were diagnosed with GDM treated by diet, and an additional 1.0% (n = 2398) were diagnosed with GDM treated by medication. Offsprings of patients with GDM treated by medication had a higher cumulative incidence of ophthalmic morbidity when compared to the other groups (Kaplan-Meier log rank test p = .038). GDM treated by medication was found to be an independent risk factor for long-term ophthalmic morbidity, in a cox multivariable model (adjusted HR: 1.5, 95%CI: 1.05-2.1, p = .025). CONCLUSIONS: Gestational diabetes mellitus treated by medication is associated with an increased risk for long-term pediatric ophthalmic morbidity.
Asunto(s)
Diabetes Gestacional , Oftalmopatías/epidemiología , Efectos Tardíos de la Exposición Prenatal , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Israel/epidemiología , Masculino , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Adulto JovenRESUMEN
PURPOSE: To describe a previously unreported phenomenon of idiopathic edematous punctal stenosis (IEPS) with chronic epiphora, presenting almost exclusively in young female patients. METHODS: A review of patients who presented with chronic epiphora and edematous punctal stenosis of unknown cause (IEPS) at the outpatient clinic of Soroka Medical Center between August 2011 and August 2015. Associated findings from clinical examination were recorded. RESULTS: A total of 32 patients with IEPS were documented. There were 30 female and 2 male patients. Average age at diagnosis was 37.6 ± 13.4 years, range 19-63 years, median 35 years. Temporary alleviation of symptoms was reported in subjects treated with topical steroids (43.8%), tacrolimus ointment (15.6%), and matrix metalloproteinase inhibitors (3.1%). No improvement in symptoms was reported in 37.5% of patients. Symptoms were bilateral in 78.1% of the patients. Spontaneous resolution was achieved in only 6.3% (2/32). CONCLUSIONS: IEPS accompanied by chronic epiphora has not been characterized to date. Our data show a clear predominance of females, most of them in their fertile years.
Asunto(s)
Edema/etiología , Enfermedades del Aparato Lagrimal/complicaciones , Aparato Lagrimal/diagnóstico por imagen , Obstrucción del Conducto Lagrimal/etiología , Administración Tópica , Adulto , Antiinflamatorios/administración & dosificación , Enfermedad Crónica , Edema/diagnóstico , Edema/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Humanos , Enfermedades del Aparato Lagrimal/diagnóstico , Enfermedades del Aparato Lagrimal/tratamiento farmacológico , Obstrucción del Conducto Lagrimal/diagnóstico , Obstrucción del Conducto Lagrimal/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Microscopía con Lámpara de Hendidura , Adulto JovenRESUMEN
A 46-year-old woman being treated with warfarin for antiphospholipid antibody syndrome experienced a rise in international normalized ratio (INR) to 5.4 and developed sudden headache and diplopia. Neuro-ophthalmologic examination disclosed a right fourth nerve palsy. Noncontrast computed tomography revealed a subdural hematoma layered along the right tentorium cerebelli, directly in the path of the nerve. With normalization of the INR, the palsy markedly improved over subsequent weeks. This is a unique case of a nontraumatic subdural hematoma causing a fourth nerve palsy.
Asunto(s)
Hemorragia Cerebral/complicaciones , Diplopía/etiología , Duramadre/irrigación sanguínea , Enfermedades del Nervio Troclear/complicaciones , Hemorragia Cerebral/diagnóstico , Diplopía/diagnóstico , Duramadre/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Enfermedades del Nervio Troclear/diagnósticoRESUMEN
OBJECTIVE: To investigate whether delivery of small for gestational age (SGA) neonate poses a risk for subsequent long-term ophthalmic morbidity. METHODS: In this population-based study, all deliveries between 1991 and 2014 were included. Congenital malformations and multiple gestations were excluded from the analysis. Offspring were defined as either SGA (weight below the 5th percentile for gestational age) or non-SGA. Comparison was performed regarding the incidence of long-term ophthalmic morbidity in a cohort of neonates who were born SGA and those who were not. Ophthalmic morbidity was documented during any encounter with the hospital for a period of up to 18 years after delivery. Ophthalmic morbidity included infections of the eye or the adnexa, inflammation of any cause requiring admission, visual disturbances, and other hospital admissions carrying an ICD-9 code of ophthalmic designation. A Cox proportional hazards model was used to estimate the adjusted hazards ratio (HR) for ophthalmic morbidity During the study period, 243,682 deliveries met the inclusion criteria, of which 11,290 (4.63%) were defined as SGA. RESULTS: During the follow-up period, SGA neonates had higher rates of ophthalmic-related hospitalizations (1.2% versus 1.0%; OR = 1.22, 95% CI 1.02-1.46; p = 0.026). In a Cox proportional hazards model, adjusted for confounders such as maternal age, gestational age at delivery, child birth year, low 5 min Apgar scores (< 7), gestational diabetes, maternal hypertensive disorders, placental abruption and placenta previa, SGA neonate was independently associated with subsequent long-term ophthalmic morbidity (adjusted HR = 1.22; 95% CI 1.02-1.47; p = 0.024). CONCLUSION: Delivery of an SGA neonate is an independent risk factor for long-term ophthalmic morbidity.
Asunto(s)
Oftalmopatías/etiología , Recién Nacido Pequeño para la Edad Gestacional/fisiología , Morbilidad/tendencias , Adulto , Estudios de Cohortes , Femenino , Humanos , Incidencia , Recién Nacido , Masculino , Embarazo , Complicaciones del Embarazo , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Osteochondroma is the most common benign bone tumor; intracranial osteochondroma is a very rare finding in the neurosurgical literature and most of them arise from the skull base. CASE REPORT: We report a case of suprasellar ostheocondroma in a 16-year-old female, with its CT and MRI appearances, which caused visual deficits, resolved after surgery. DISCUSSION: To our knowledge, this is the fifth case of osteochondroma affecting the suprasellar region that has been reported, with all the characteristic features of this tumor: optic chiasmal syndrome, intralesional calcifications, cartilage cap, and contrast enhancement. CONCLUSION: Multidiscplinary teams, including a neuro-ophthalmologist, endocrinologist, neuroradiologist, neurosurgeon, and neuropathologist are needed for correct treatment of the disease and appropriate follow-up.
Asunto(s)
Neoplasias Óseas/cirugía , Neoplasias Encefálicas/cirugía , Osteocondroma/cirugía , Grupo de Atención al Paciente , Adolescente , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Encefálicas/diagnóstico por imagen , Femenino , Humanos , Osteocondroma/diagnóstico por imagen , Resultado del TratamientoRESUMEN
BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. METHODS: Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients' clinical data and electroretinography (ERG) findings were collected. Molecular analysis included homozygosity mapping with polymorphic markers and Sanger sequencing of candidate genes. RESULTS: Of the eight affected individuals of the kindred, nystagmus was documented in five subjects and keratoconus in three. Cataract was found in 5 of 16 eyes. Photopic and scotopic ERG performed in 5 patients were extinguished. All affected subjects were nearly blind, their visual acuity ranged between finger counting and uncertain light perception. Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D. Molecular modeling implied that the mutation changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. CONCLUSIONS: This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge the scope of genetic variability of LCA, highlight the phenotypic heterogeneity found amongst individuals harboring an identical LCA mutation, and possibly provide hope for gene therapy in patients with this congenital blinding disease. As the Bedouin kindred studied originates from Saudi Arabia, the mutation found might be an ancient founder mutation in that large community.